Results

Individual Genome Sequence Results
Through the Individual Genome Sequencing (IGS) service, you will obtain a vast amount of DNA data that is, in essence, your genome story decoded. Your IGS results will be returned to your doctor on a USB storage device loaded with your genome sequence information and a genome visual display program. You will need to schedule an appointment with him or her to review your information.

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In the future, mobile devices such as the iPad will play an important role in personal genome exploration.

The IGS results files contain multiple reports including:

Your genome sequence, covering greater than 90% of the known human genome
A list of your DNA variations as compared to the human reference genome and the dbSNP database
Charts and graphs depicting how your DNA variations are spread throughout your genome
Genome viewing software to enable your doctor to view the sequence and see positions of important features such as genes, DNA changes called single nucleotide polymorphisms (SNPs), and other sources of genetic variation.

Your doctor can use this information to identify important information about your health such as underlying diagnoses, risk for inherited disorders, genetic changes within a cancer, pharmacogenetic changes, or disease risk associations for common conditions.

Your individual genome sequence may provide important health information, but it is only part of the story. We recommend that you work with a doctor or other trained genetic professional (genetic counselor, medical geneticist) to determine a course of action, which may include ordering a secondary test or interpretive service to validate or investigate your genome sequence results.

The genome sequence information you receive is highly accurate; however, current scientific understanding of the information is limited. Genome science is moving forward at an amazing pace and we are learning more each day. Your genome sequence information is stable and should not change. Since a full complement of your genome is contained within each cell, a specific cell may exhibit a few changes at any given time based on random mistakes as well as environmental exposures such as sun damage. Most of these changes do not affect the individual and are lost when that cell die, reducing any impact on an individual's "normal" genome. As our scientific understanding increases, the interpretation of what it may mean can change over your lifetime.

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Illumina

Please note:
Individual Genome Sequencing will be performed in Illumina's CLIA (Clinical Laboratory Improvements Amendment)-certified and CAP (College of American Pathologists)-accredited Clinical Services Laboratory's, under a valid and unexpired California Clinical Laboratory License. The Individual Genome Sequence information is generated by licensed personnel using an analytically validated process. Consistent with Lab Developed Tests, it has not been cleared or approved by the U.S. Food and Drug Administration.

This genome sequence information can be analyzed to potentially aid your doctor in the evaluation of a broad range of health conditions or physiological traits. You will not receive medical results, or a diagnosis, or a recommendation for treatment from Illumina. Any results arising from the analysis of your genome sequence information that might be deemed medically actionable should be confirmed using alternative testing. If you have any questions or concerns about what you learn through your genome sequence information, you should contact your doctor or a genetic counselor.

Currently Illumina does not accept orders for individual genome sequencing services from the following states: Florida, New York, and Rhode Island.